Canonical Allele Identifier: CA120176

Gene: ACADSB

Linked Data

• ClinVar Variation Id: 9202
• ClinVar RCV Id: RCV000009780 ; RCV000389934 ; RCV002512950
• dbSNP Id: rs58639322
• ExAC: 10:124800121 C / T
• gnomAD v2: 10-124800121-C-T
• gnomAD v3: 10-123040605-C-T
• gnomAD v4: 10-123040605-C-T
• MyVariant Identifiers: chr10:g.124800121C>T (hg19) ; chr10:g.123040605C>T (hg38)
• PubMed: PMID:17945527

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123040605C>T , CM000672.2:g.123040605C>T	GRCh38
NC_000010.10:g.124800121C>T , CM000672.1:g.124800121C>T	GRCh37
NC_000010.9:g.124790111C>T	NCBI36
NG_008003.1:g.36693C>T , LRG_451:g.36693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358776.7:c.443C>T MANE Select	ENSP00000357873.3:p.Thr148Ile
ENST00000358776.6:c.443C>T	ENSP00000357873.3:p.Thr148Ile
ENST00000368869.8:c.137C>T	ENSP00000357862.4:p.Thr46Ile
ENST00000411816.2:n.460C>T
NM_001609.3:c.443C>T , LRG_451t1:c.443C>T	NP_001600.1:p.Thr148Ile
NM_001330174.1:c.137C>T	NP_001317103.1:p.Thr46Ile
NM_001330174.2:c.137C>T	NP_001317103.1:p.Thr46Ile
NM_001609.4:c.443C>T MANE Select	NP_001600.1:p.Thr148Ile
NM_001330174.3:c.137C>T	NP_001317103.1:p.Thr46Ile